Varaico: Literature-Extracted Genetic Variants

Gene:DNAH6
Variant:p.M2168L
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DNAH6

NM_001370.2:p.M2168L

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

High-impact FN1 mutation decreases chondrogenic potential and affects cartilage deposition via decreased binding to collagen type II.

van Hoolwerff M et al.

Science Advances, 2021

34739320 (PubMed )
Supplement: sciadv.abg8583_sm.pdf
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